Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.V142del1
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TTR

NM_000371.4:p.V142del1

Associated Papers

Haemorrhagic events in patients with transthyretin cardiac amyloidosis.

Moreno De Redrojo Cortés L et al.

Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2026

Genetic landscape of hereditary transthyretin amyloidosis in Spain: a multicentric retrospective study.

Domínguez-Martínez M et al.

Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2025

Effectiveness and Utility of Genetic Testing in Establishing a Diagnosis of Hereditary Transthyretin Amyloidosis.

Singh A et al.

Journal of Clinical Medicine, 2025

41095902 (PubMed )
Supplement: jcm-14-06821-s001.zip › jcm-3769433-supplementary.pdf

A Multicenter Study of Hereditary Transthyretin Amyloidosis in China.

Chu X et al.

Annals of Neurology, 2025

Prevalence and characteristics of transthyretin amyloid cardiomyopathy in hypertrophic cardiomyopathy.

Garcia-Pavia P et al.

Esc Heart Failure, 2024

Frequency of hereditary transthyretin amyloidosis among elderly patients with transthyretin cardiomyopathy.

Maestro-Benedicto A et al.

European Journal of Heart Failure, 2022

Neurofilament light chain, a biomarker for polyneuropathy in systemic amyloidosis.

Louwsma J et al.

Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2021

A Missense Variant p.Ala117Ser in the Transthyretin Gene of a Han Chinese Family with Familial Amyloid Polyneuropathy.

Chen Q et al.

Molecular Neurobiology, 2018

Homozygosity for the V122I mutation in transthyretin is associated with earlier onset of cardiac amyloidosis in the African American population in the seventh decade of life.

Reddi HV et al.

The Journal of Molecular Diagnostics : Jmd, 2014

Diagnostic hallmarks and pitfalls in late-onset progressive transthyretin-related amyloid-neuropathy.

Dohrn MF et al.

Journal of Neurology, 2013

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."